ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) (rs397509401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV001310216 SCV001499825 likely pathogenic Xeroderma pigmentosum, group F 2021-02-21 criteria provided, single submitter clinical testing
OMIM RCV000049246 SCV000077499 pathogenic Fanconi anemia, complementation group Q 2013-05-02 no assertion criteria provided literature only
Leiden Open Variation Database RCV000049246 SCV001364570 pathogenic Fanconi anemia, complementation group Q 2014-10-03 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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